| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy
|
Miura, Shiroh
|
|
2017
|
60 |
9 |
p. 474-478
5 p.
|
artikel
|
| 2 |
Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy
|
Petropoulou, Evmorfia
|
|
2017
|
60 |
9 |
p. 485-488
4 p.
|
artikel
|
| 3 |
First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features
|
Kloth, Katja
|
|
2017
|
60 |
9 |
p. 494-498
5 p.
|
artikel
|
| 4 |
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation
|
Asadollahi, Reza
|
|
2017
|
60 |
9 |
p. 451-464
14 p.
|
artikel
|
| 5 |
High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations
|
Rath, Matthias
|
|
2017
|
60 |
9 |
p. 479-484
6 p.
|
artikel
|
| 6 |
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield
|
Overwater, E.
|
|
2017
|
60 |
9 |
p. 465-473
9 p.
|
artikel
|
| 7 |
Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity
|
Knijnenburg, Jeroen
|
|
2017
|
60 |
9 |
p. 445-450
6 p.
|
artikel
|
| 8 |
Testicular Adrenal Rest Tumor (TART) in congenital adrenal hyperplasia
|
Ozisik, Hatice
|
|
2017
|
60 |
9 |
p. 489-493
5 p.
|
artikel
|
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